{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA411023825", "communityStandardTitle": [ "NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834544[alleleid]", "alleleId": 2834544, "preferredName": "NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676123", "RCV": [ "RCV003469834" ], "variationId": 2676123 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26853856G>A?assembly=hg19", "id": "chr22:g.26853856G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.26457890G>A?assembly=hg38", "id": "chr22:g.26457890G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2518037452", "rs": 2518037452 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-26457890-G-A?dataset=gnomad_r4", "id": "22-26457890-G-A", "variant": "22:26457890 G / A" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 26457890, "referenceAllele": "G", "start": 26457889 } ], "hgvs": [ "NC_000022.11:g.26457890G>A", "CM000684.2:g.26457890G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 26853856, "referenceAllele": "G", "start": 26853855 } ], "hgvs": [ "NC_000022.10:g.26853856G>A", "CM000684.1:g.26853856G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 25183856, "referenceAllele": "G", "start": 25183855 } ], "hgvs": [ "NC_000022.9:g.25183856G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "T", "end": 30974, "referenceAllele": "C", "start": 30973 } ], "hgvs": [ "NG_009763.2:g.30974C>T", "LRG_590:g.30974C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001629" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2475, "referenceAllele": "C", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000422379.3:c.1978C>T" ], "proteinEffect": { "hgvs": "ENSP00000415081.3:p.Gln660Ter", "hgvsWellDefined": "ENSP00000415081.3:p.Gln660_Leu726delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904782" }, { "coordinates": [ { "allele": "T", "end": 2645, "referenceAllele": "C", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000473782.2:c.1924C>T" ], "proteinEffect": { "hgvs": "ENSP00000514223.1:p.Gln642Ter", "hgvsWellDefined": "ENSP00000514223.1:p.Gln642_Leu708delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905210" }, { "coordinates": [ { "allele": "T", "end": 2390, "referenceAllele": "C", "start": 2389 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000483631.2:c.1129C>T" ], "proteinEffect": { "hgvs": "ENSP00000514228.1:p.Gln377Ter", "hgvsWellDefined": "ENSP00000514228.1:p.Gln377_Leu443delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905307" }, { "coordinates": [ { "allele": "T", "end": 2549, "referenceAllele": "C", "start": 2548 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000491142.2:c.1924C>T" ], "proteinEffect": { "hgvs": "ENSP00000514221.1:p.Gln642Ter", "hgvsWellDefined": "ENSP00000514221.1:p.Gln642_Leu708delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905383" }, { "coordinates": [ { "allele": "T", "end": 4850, "referenceAllele": "C", "start": 4849 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699226.1:n.4850C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910166" }, { "coordinates": [ { "allele": "T", "end": 2491, "referenceAllele": "C", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699227.1:c.*1268C>T" ], "proteinEffect": { "hgvs": "ENSP00000514220.1:n.*1268C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910167" }, { "coordinates": [ { "allele": "T", "end": 2474, "referenceAllele": "C", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699228.1:n.2474C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910168" }, { "coordinates": [ { "allele": "T", "end": 1341, "referenceAllele": "C", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699229.1:n.1341C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910169" }, { "coordinates": [ { "allele": "T", "end": 2647, "referenceAllele": "C", "start": 2646 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699230.1:n.2647C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910170" }, { "coordinates": [ { "allele": "T", "end": 4936, "referenceAllele": "C", "start": 4935 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699231.1:n.4936C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910171" }, { "coordinates": [ { "allele": "T", "end": 3280, "referenceAllele": "C", "start": 3279 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699232.1:n.3280C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910172" }, { "coordinates": [ { "allele": "T", "end": 1795, "referenceAllele": "C", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699233.1:n.1795C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910173" }, { "coordinates": [ { "allele": "T", "end": 2404, "referenceAllele": "C", "start": 2403 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699234.1:c.*1268C>T" ], "proteinEffect": { "hgvs": "ENSP00000514222.1:n.*1268C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910174" }, { "coordinates": [ { "allele": "T", "end": 2370, "referenceAllele": "C", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699235.1:c.1129C>T" ], "proteinEffect": { "hgvs": "ENSP00000514224.1:p.Gln377Ter", "hgvsWellDefined": "ENSP00000514224.1:p.Gln377_Leu443delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910175" }, { "coordinates": [ { "allele": "T", "end": 2437, "referenceAllele": "C", "start": 2436 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699236.1:c.*1113C>T" ], "proteinEffect": { "hgvs": "ENSP00000514225.1:n.*1113C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910176" }, { "coordinates": [ { "allele": "T", "end": 2422, "referenceAllele": "C", "start": 2421 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699237.1:c.*1113C>T" ], "proteinEffect": { "hgvs": "ENSP00000514226.1:n.*1113C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910177" }, { "coordinates": [ { "allele": "T", "end": 2600, "referenceAllele": "C", "start": 2599 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699238.1:c.*1467C>T" ], "proteinEffect": { "hgvs": "ENSP00000514227.1:n.*1467C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910178" }, { "coordinates": [ { "allele": "T", "end": 4678, "referenceAllele": "C", "start": 4677 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699239.1:n.4678C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910179" }, { "coordinates": [ { "allele": "T", "end": 2658, "referenceAllele": "C", "start": 2657 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699240.1:c.*1581C>T" ], "proteinEffect": { "hgvs": "ENSP00000514229.1:n.*1581C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910180" }, { "coordinates": [ { "allele": "T", "end": 3267, "referenceAllele": "C", "start": 3266 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699241.1:c.*2116C>T" ], "proteinEffect": { "hgvs": "ENSP00000514230.1:n.*2116C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910181" }, { "coordinates": [ { "allele": "T", "end": 2414, "referenceAllele": "C", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699242.1:c.1834C>T" ], "proteinEffect": { "hgvs": "ENSP00000514231.1:p.Gln612Ter", "hgvsWellDefined": "ENSP00000514231.1:p.Gln612_Leu678delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910182" }, { "coordinates": [ { "allele": "T", "end": 2532, "referenceAllele": "C", "start": 2531 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699243.1:c.*1268C>T" ], "proteinEffect": { "hgvs": "ENSP00000514232.1:n.*1268C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910183" }, { "coordinates": [ { "allele": "T", "end": 2379, "referenceAllele": "C", "start": 2378 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699244.1:c.1777C>T" ], "proteinEffect": { "hgvs": "ENSP00000514233.1:p.Gln593Ter", "hgvsWellDefined": "ENSP00000514233.1:p.Gln593_Leu659delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910184" }, { "coordinates": [ { "allele": "T", "end": 1216, "referenceAllele": "C", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699245.1:n.1216C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910185" }, { "coordinates": [ { "allele": "T", "end": 2488, "referenceAllele": "C", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699246.1:c.*1295C>T" ], "proteinEffect": { "hgvs": "ENSP00000514234.1:n.*1295C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910186" }, { "coordinates": [ { "allele": "T", "end": 1421, "referenceAllele": "C", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699247.1:c.880C>T" ], "proteinEffect": { "hgvs": "ENSP00000514235.1:p.Gln294Ter", "hgvsWellDefined": "ENSP00000514235.1:p.Gln294_Leu360delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910187" }, { "coordinates": [ { "allele": "T", "end": 3783, "endIntronDirection": "-", "endIntronOffset": 4485, "referenceAllele": "C", "start": 3783, "startIntronDirection": "-", "startIntronOffset": 4486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699248.1:n.3784-4486C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910188" }, { "coordinates": [ { "allele": "T", "end": 2279, "endIntronDirection": "-", "endIntronOffset": 4485, "referenceAllele": "C", "start": 2279, "startIntronDirection": "-", "startIntronOffset": 4486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699249.1:c.*1058-4486C>T" ], "proteinEffect": { "hgvs": "ENSP00000514236.1:n.*1058-4486C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910189" }, { "coordinates": [ { "allele": "T", "end": 2311, "endIntronDirection": "-", "endIntronOffset": 4485, "referenceAllele": "C", "start": 2311, "startIntronDirection": "-", "startIntronOffset": 4486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699250.1:c.1714-4486C>T" ], "proteinEffect": { "hgvs": "ENSP00000514237.1:n.1714-4486C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910190" }, { "coordinates": [ { "allele": "T", "end": 2474, "referenceAllele": "C", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699251.1:c.1924C>T" ], "proteinEffect": { "hgvs": "ENSP00000514238.1:p.Gln642Ter", "hgvsWellDefined": "ENSP00000514238.1:p.Gln642_Asp680delinsLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910191" }, { "coordinates": [ { "allele": "T", "end": 2474, "referenceAllele": "C", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000699252.1:n.2474C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910192" }, { "coordinates": [ { "allele": "T", "end": 2512, "referenceAllele": "C", "start": 2511 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.7:c.1924C>T" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Gln642Ter", "hgvsWellDefined": "ENSP00000381213.2:p.Gln642_Leu708delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.1924C>T" }, "RefSeq": { "hgvs": "NM_022081.6:c.1924C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Gln642Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Gln642Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2433, "referenceAllele": "C", "start": 2432 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000336873.9:c.1924C>T" ], "proteinEffect": { "hgvs": "ENSP00000338457.5:p.Gln642Ter", "hgvsWellDefined": "ENSP00000338457.5:p.Gln642_Leu708delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260384" }, { "coordinates": [ { "allele": "T", "end": 2541, "referenceAllele": "C", "start": 2540 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000398145.6:c.1924C>T" ], "proteinEffect": { "hgvs": "ENSP00000381213.2:p.Gln642Ter", "hgvsWellDefined": "ENSP00000381213.2:p.Gln642_Leu708delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278154" }, { "coordinates": [ { "allele": "T", "end": 2209, "referenceAllele": "C", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000402105.7:c.1909C>T" ], "proteinEffect": { "hgvs": "ENSP00000384185.3:p.Gln637Ter", "hgvsWellDefined": "ENSP00000384185.3:p.Gln637_Leu703delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279411" }, { "coordinates": [ { "allele": "T", "end": 2139, "referenceAllele": "C", "start": 2138 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000429411.5:c.*1496C>T" ], "proteinEffect": { "hgvs": "ENSP00000399705.1:n.*1496C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS290654" }, { "coordinates": [ { "allele": "T", "end": 2583, "referenceAllele": "C", "start": 2582 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000439453.5:c.*1442C>T" ], "proteinEffect": { "hgvs": "ENSP00000406764.1:n.*1442C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS295428" }, { "coordinates": [ { "allele": "T", "end": 2924, "referenceAllele": "C", "start": 2923 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000464362.5:c.*2255C>T" ], "proteinEffect": { "hgvs": "ENSP00000430291.1:n.*2255C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS308212" }, { "coordinates": [ { "allele": "T", "end": 4783, "referenceAllele": "C", "start": 4782 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000466781.5:n.4783C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310055" }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000485842.5:n.615C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324780" }, { "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "C", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000493455.6:n.487C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS330600" }, { "coordinates": [ { "allele": "T", "end": 2479, "endIntronDirection": "-", "endIntronOffset": 4485, "referenceAllele": "C", "start": 2479, "startIntronDirection": "-", "startIntronOffset": 4486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000496385.5:n.2480-4486C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332866" }, { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "ENST00000519774.5:n.310C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS346956" }, { "@id": "http://reg.genome.network/allele/PA2829965113", "coordinates": [ { "allele": "T", "end": 2592, "referenceAllele": "C", "start": 2591 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.5:c.1924C>T", "LRG_590t1:c.1924C>T" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Gln642Ter", "hgvsWellDefined": "NP_071364.4:p.Gln642_Leu708delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037183" }, { "@id": "http://reg.genome.network/allele/PA2830298055", "coordinates": [ { "allele": "T", "end": 2209, "referenceAllele": "C", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_152841.2:c.1909C>T", "LRG_590t2:c.1909C>T" ], "proteinEffect": { "hgvs": "NP_690054.1:p.Gln637Ter", "hgvsWellDefined": "NP_690054.1:p.Gln637_Leu703delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042170" }, { "coordinates": [ { "allele": "T", "end": 2610, "referenceAllele": "C", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073135.1:n.2610C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052514" }, { "coordinates": [ { "allele": "T", "end": 2372, "referenceAllele": "C", "start": 2371 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.1:n.2372C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052515" }, { "coordinates": [ { "allele": "T", "end": 2637, "referenceAllele": "C", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724353.2:c.1978C>T" ], "proteinEffect": { "hgvs": "XP_006724416.1:p.Gln660Ter", "hgvsWellDefined": "XP_006724416.1:p.Gln660_Leu726delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075485" }, { "coordinates": [ { "allele": "T", "end": 2542, "referenceAllele": "C", "start": 2541 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724354.2:c.1978C>T" ], "proteinEffect": { "hgvs": "XP_006724417.1:p.Gln660Ter", "hgvsWellDefined": "XP_006724417.1:p.Gln660_Leu726delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075486" }, { "coordinates": [ { "allele": "T", "end": 1820, "referenceAllele": "C", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724360.2:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_006724423.1:p.Gln471Ter", "hgvsWellDefined": "XP_006724423.1:p.Gln471_Leu537delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075487" }, { "coordinates": [ { "allele": "T", "end": 2715, "referenceAllele": "C", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.1:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528787.1:p.Gln686_Leu752delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097541" }, { "coordinates": [ { "allele": "T", "end": 2620, "referenceAllele": "C", "start": 2619 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.1:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528788.1:p.Gln686_Leu752delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097542" }, { "coordinates": [ { "allele": "T", "end": 2825, "referenceAllele": "C", "start": 2824 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.1:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528789.1:p.Gln686_Leu752delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097543" }, { "coordinates": [ { "allele": "T", "end": 2623, "referenceAllele": "C", "start": 2622 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.1:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528790.1:p.Gln686_Leu752delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097544" }, { "coordinates": [ { "allele": "T", "end": 2726, "referenceAllele": "C", "start": 2725 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.1:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528791.1:p.Gln686_Leu752delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097545" }, { "coordinates": [ { "allele": "T", "end": 2661, "referenceAllele": "C", "start": 2660 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.1:c.2002C>T" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Gln668Ter", "hgvsWellDefined": "XP_011528792.1:p.Gln668_Leu734delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097546" }, { "coordinates": [ { "allele": "T", "end": 2715, "referenceAllele": "C", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.1:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528793.1:p.Gln686_Asp724delinsLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097547" }, { "coordinates": [ { "allele": "T", "end": 2715, "referenceAllele": "C", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.1:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528794.1:p.Gln686_Ser699delinsLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097548" }, { "coordinates": [ { "allele": "T", "end": 2504, "endIntronDirection": "-", "endIntronOffset": 4485, "referenceAllele": "C", "start": 2504, "startIntronDirection": "-", "startIntronOffset": 4486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.1:c.1846-4486C>T" ], "proteinEffect": { "hgvs": "XP_011528795.1:n.1846-4486C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS097549" }, { "coordinates": [ { "allele": "T", "end": 2029, "referenceAllele": "C", "start": 2028 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.1:c.1264C>T" ], "proteinEffect": { "hgvs": "XP_011528796.1:p.Gln422Ter", "hgvsWellDefined": "XP_011528796.1:p.Gln422_Leu488delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097550" }, { "coordinates": [ { "allele": "T", "end": 1517, "referenceAllele": "C", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530495.1:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_011528797.1:p.Gln471Ter", "hgvsWellDefined": "XP_011528797.1:p.Gln471_Leu537delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097551" }, { "coordinates": [ { "allele": "T", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530496.1:c.1264C>T" ], "proteinEffect": { "hgvs": "XP_011528798.1:p.Gln422Ter", "hgvsWellDefined": "XP_011528798.1:p.Gln422_Leu488delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097552" }, { "coordinates": [ { "allele": "T", "end": 2715, "referenceAllele": "C", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.1:n.2715C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132705" }, { "@id": "http://reg.genome.network/allele/PA2827464300", "coordinates": [ { "allele": "T", "end": 2501, "referenceAllele": "C", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349896.1:c.1924C>T" ], "proteinEffect": { "hgvs": "NP_001336825.1:p.Gln642Ter", "hgvsWellDefined": "NP_001336825.1:p.Gln642_Leu708delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519007" }, { "@id": "http://reg.genome.network/allele/PA2827465267", "coordinates": [ { "allele": "T", "end": 2720, "referenceAllele": "C", "start": 2719 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.1:c.1924C>T" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Gln642Ter", "hgvsWellDefined": "NP_001336827.1:p.Gln642_Leu708delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519008" }, { "@id": "http://reg.genome.network/allele/PA2827466284", "coordinates": [ { "allele": "T", "end": 2521, "referenceAllele": "C", "start": 2520 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.1:c.1924C>T" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Gln642Ter", "hgvsWellDefined": "NP_001336828.1:p.Gln642_Leu708delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519009" }, { "@id": "http://reg.genome.network/allele/PA2827467320", "coordinates": [ { "allele": "T", "end": 2646, "referenceAllele": "C", "start": 2645 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.1:c.1978C>T" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Gln660Ter", "hgvsWellDefined": "NP_001336829.1:p.Gln660_Leu726delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519010" }, { "@id": "http://reg.genome.network/allele/PA2741863950", "coordinates": [ { "allele": "T", "end": 2555, "referenceAllele": "C", "start": 2554 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349901.1:c.1978C>T" ], "proteinEffect": { "hgvs": "NP_001336830.1:p.Gln660Ter", "hgvsWellDefined": "NP_001336830.1:p.Gln660_Leu726delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519011" }, { "coordinates": [ { "allele": "T", "end": 2290, "endIntronDirection": "-", "endIntronOffset": 4485, "referenceAllele": "C", "start": 2290, "startIntronDirection": "-", "startIntronOffset": 4486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349902.1:c.1714-4486C>T" ], "proteinEffect": { "hgvs": "NP_001336831.1:n.1714-4486C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS519012" }, { "coordinates": [ { "allele": "T", "end": 2381, "endIntronDirection": "-", "endIntronOffset": 4485, "referenceAllele": "C", "start": 2381, "startIntronDirection": "-", "startIntronOffset": 4486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.1:c.1714-4486C>T" ], "proteinEffect": { "hgvs": "NP_001336832.1:n.1714-4486C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS519013" }, { "@id": "http://reg.genome.network/allele/PA2827470875", "coordinates": [ { "allele": "T", "end": 2592, "referenceAllele": "C", "start": 2591 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.1:c.1924C>T" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Gln642Ter", "hgvsWellDefined": "NP_001336833.1:p.Gln642_Ser655delinsLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519014" }, { "@id": "http://reg.genome.network/allele/PA2827471911", "coordinates": [ { "allele": "T", "end": 2501, "referenceAllele": "C", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349905.1:c.1924C>T" ], "proteinEffect": { "hgvs": "NP_001336834.1:p.Gln642Ter", "hgvsWellDefined": "NP_001336834.1:p.Gln642_Ser655delinsLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519015" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.1:n.2701C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530039" }, { "coordinates": [ { "allele": "T", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146312.1:n.2526C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530040" }, { "coordinates": [ { "allele": "T", "end": 2546, "referenceAllele": "C", "start": 2545 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.1:n.2546C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530041" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146314.1:n.2677C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530042" }, { "coordinates": [ { "allele": "T", "end": 2617, "referenceAllele": "C", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.1:n.2617C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530043" }, { "coordinates": [ { "allele": "T", "end": 2592, "referenceAllele": "C", "start": 2591 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.1:n.2592C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530044" }, { "coordinates": [ { "allele": "T", "end": 1820, "referenceAllele": "C", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_006724360.3:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_006724423.1:p.Gln471Ter", "hgvsWellDefined": "XP_006724423.1:p.Gln471_Leu537delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540959" }, { "coordinates": [ { "allele": "T", "end": 2710, "referenceAllele": "C", "start": 2709 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530485.2:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528787.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528787.1:p.Gln686_Leu752delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550005" }, { "coordinates": [ { "allele": "T", "end": 2620, "referenceAllele": "C", "start": 2619 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530486.2:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528788.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528788.1:p.Gln686_Leu752delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550006" }, { "coordinates": [ { "allele": "T", "end": 2825, "referenceAllele": "C", "start": 2824 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530487.2:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528789.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528789.1:p.Gln686_Leu752delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550007" }, { "coordinates": [ { "allele": "T", "end": 2623, "referenceAllele": "C", "start": 2622 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530488.2:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528790.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528790.1:p.Gln686_Leu752delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550008" }, { "coordinates": [ { "allele": "T", "end": 2726, "referenceAllele": "C", "start": 2725 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530489.2:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528791.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528791.1:p.Gln686_Leu752delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550009" }, { "coordinates": [ { "allele": "T", "end": 2656, "referenceAllele": "C", "start": 2655 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530490.3:c.2002C>T" ], "proteinEffect": { "hgvs": "XP_011528792.1:p.Gln668Ter", "hgvsWellDefined": "XP_011528792.1:p.Gln668_Leu734delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550010" }, { "coordinates": [ { "allele": "T", "end": 2710, "referenceAllele": "C", "start": 2709 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530491.3:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528793.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528793.1:p.Gln686_Asp724delinsLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550011" }, { "coordinates": [ { "allele": "T", "end": 2710, "referenceAllele": "C", "start": 2709 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530492.2:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_011528794.1:p.Gln686Ter", "hgvsWellDefined": "XP_011528794.1:p.Gln686_Ser699delinsLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550012" }, { "coordinates": [ { "allele": "T", "end": 2499, "endIntronDirection": "-", "endIntronOffset": 4485, "referenceAllele": "C", "start": 2499, "startIntronDirection": "-", "startIntronOffset": 4486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530493.3:c.1846-4486C>T" ], "proteinEffect": { "hgvs": "XP_011528795.1:n.1846-4486C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS550013" }, { "coordinates": [ { "allele": "T", "end": 2011, "referenceAllele": "C", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530494.2:c.1264C>T" ], "proteinEffect": { "hgvs": "XP_011528796.1:p.Gln422Ter", "hgvsWellDefined": "XP_011528796.1:p.Gln422_Leu488delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550014" }, { "coordinates": [ { "allele": "T", "end": 1517, "referenceAllele": "C", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530495.2:c.1411C>T" ], "proteinEffect": { "hgvs": "XP_011528797.1:p.Gln471Ter", "hgvsWellDefined": "XP_011528797.1:p.Gln471_Leu537delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550015" }, { "coordinates": [ { "allele": "T", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_011530496.2:c.1264C>T" ], "proteinEffect": { "hgvs": "XP_011528798.1:p.Gln422Ter", "hgvsWellDefined": "XP_011528798.1:p.Gln422_Leu488delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550016" }, { "coordinates": [ { "allele": "T", "end": 2656, "referenceAllele": "C", "start": 2655 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029045.2:c.2002C>T" ], "proteinEffect": { "hgvs": "XP_016884534.1:p.Gln668Ter", "hgvsWellDefined": "XP_016884534.1:p.Gln668_Ser681delinsLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578661" }, { "coordinates": [ { "allele": "T", "end": 2578, "referenceAllele": "C", "start": 2577 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029046.2:c.1924C>T" ], "proteinEffect": { "hgvs": "XP_016884535.1:p.Gln642Ter", "hgvsWellDefined": "XP_016884535.1:p.Gln642_Asp680delinsLeuProAlaLeuTyrGluMetThrValArgLeuProValThrSerCysHisIleProLeuLeuSerPheThrProSerGlnSerIleGlnProProProValTrpArgAlaAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578662" }, { "coordinates": [ { "allele": "T", "end": 2445, "endIntronDirection": "-", "endIntronOffset": 4485, "referenceAllele": "C", "start": 2445, "startIntronDirection": "-", "startIntronOffset": 4486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029047.2:c.1792-4486C>T" ], "proteinEffect": { "hgvs": "XP_016884536.1:n.1792-4486C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578663" }, { "coordinates": [ { "allele": "T", "end": 2741, "referenceAllele": "C", "start": 2740 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029052.2:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_016884541.1:p.Gln506Ter", "hgvsWellDefined": "XP_016884541.1:p.Gln506_Leu572delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578664" }, { "coordinates": [ { "allele": "T", "end": 2105, "referenceAllele": "C", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029053.1:c.1501C>T" ], "proteinEffect": { "hgvs": "XP_016884542.1:p.Gln501Ter", "hgvsWellDefined": "XP_016884542.1:p.Gln501_Leu567delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578665" }, { "coordinates": [ { "allele": "T", "end": 2754, "referenceAllele": "C", "start": 2753 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029056.2:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_016884545.1:p.Gln377Ter", "hgvsWellDefined": "XP_016884545.1:p.Gln377_Leu443delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578666" }, { "coordinates": [ { "allele": "T", "end": 2712, "referenceAllele": "C", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029061.2:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_016884550.1:p.Gln377Ter", "hgvsWellDefined": "XP_016884550.1:p.Gln377_Leu443delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578667" }, { "coordinates": [ { "allele": "T", "end": 2487, "referenceAllele": "C", "start": 2486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029062.2:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_016884551.1:p.Gln377Ter", "hgvsWellDefined": "XP_016884551.1:p.Gln377_Leu443delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578668" }, { "coordinates": [ { "allele": "T", "end": 2624, "referenceAllele": "C", "start": 2623 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029063.2:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_016884552.1:p.Gln377Ter", "hgvsWellDefined": "XP_016884552.1:p.Gln377_Leu443delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578669" }, { "coordinates": [ { "allele": "T", "end": 2396, "referenceAllele": "C", "start": 2395 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_017029064.2:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_016884553.1:p.Gln377Ter", "hgvsWellDefined": "XP_016884553.1:p.Gln377_Leu443delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578670" }, { "coordinates": [ { "allele": "T", "end": 4687, "referenceAllele": "C", "start": 4686 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452298.1:c.1297C>T" ], "proteinEffect": { "hgvs": "XP_024308066.1:p.Gln433Ter", "hgvsWellDefined": "XP_024308066.1:p.Gln433_Leu499delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585795" }, { "coordinates": [ { "allele": "T", "end": 3161, "referenceAllele": "C", "start": 3160 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452299.1:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_024308067.1:p.Gln377Ter", "hgvsWellDefined": "XP_024308067.1:p.Gln377_Leu443delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585796" }, { "coordinates": [ { "allele": "T", "end": 2426, "referenceAllele": "C", "start": 2425 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XM_024452300.1:c.1129C>T" ], "proteinEffect": { "hgvs": "XP_024308068.1:p.Gln377Ter", "hgvsWellDefined": "XP_024308068.1:p.Gln377_Ser390delinsLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585797" }, { "coordinates": [ { "allele": "T", "end": 2632, "referenceAllele": "C", "start": 2631 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755361.2:n.2632C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601115" }, { "coordinates": [ { "allele": "T", "end": 2277, "endIntronDirection": "-", "endIntronOffset": 4485, "referenceAllele": "C", "start": 2277, "startIntronDirection": "-", "startIntronOffset": 4486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755364.1:n.2278-4486C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601116" }, { "coordinates": [ { "allele": "T", "end": 3161, "referenceAllele": "C", "start": 3160 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_001755366.2:n.3161C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601117" }, { "coordinates": [ { "allele": "T", "end": 2499, "endIntronDirection": "-", "endIntronOffset": 4485, "referenceAllele": "C", "start": 2499, "startIntronDirection": "-", "startIntronOffset": 4486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_002958721.1:n.2500-4486C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604846" }, { "coordinates": [ { "allele": "T", "end": 2710, "referenceAllele": "C", "start": 2709 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "XR_937947.2:n.2710C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611762" }, { "@id": "http://reg.genome.network/allele/PA2827465267", "coordinates": [ { "allele": "T", "end": 2640, "referenceAllele": "C", "start": 2639 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349898.2:c.1924C>T" ], "proteinEffect": { "hgvs": "NP_001336827.1:p.Gln642Ter", "hgvsWellDefined": "NP_001336827.1:p.Gln642_Leu708delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688125" }, { "@id": "http://reg.genome.network/allele/PA2827466284", "coordinates": [ { "allele": "T", "end": 2441, "referenceAllele": "C", "start": 2440 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349899.2:c.1924C>T" ], "proteinEffect": { "hgvs": "NP_001336828.1:p.Gln642Ter", "hgvsWellDefined": "NP_001336828.1:p.Gln642_Leu708delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688126" }, { "@id": "http://reg.genome.network/allele/PA2827467320", "coordinates": [ { "allele": "T", "end": 2566, "referenceAllele": "C", "start": 2565 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349900.2:c.1978C>T" ], "proteinEffect": { "hgvs": "NP_001336829.1:p.Gln660Ter", "hgvsWellDefined": "NP_001336829.1:p.Gln660_Leu726delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688127" }, { "coordinates": [ { "allele": "T", "end": 2301, "endIntronDirection": "-", "endIntronOffset": 4485, "referenceAllele": "C", "start": 2301, "startIntronDirection": "-", "startIntronOffset": 4486 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349903.2:c.1714-4486C>T" ], "proteinEffect": { "hgvs": "NP_001336832.1:n.1714-4486C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS688128" }, { "@id": "http://reg.genome.network/allele/PA2827470875", "coordinates": [ { "allele": "T", "end": 2512, "referenceAllele": "C", "start": 2511 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_001349904.2:c.1924C>T" ], "proteinEffect": { "hgvs": "NP_001336833.1:p.Gln642Ter", "hgvsWellDefined": "NP_001336833.1:p.Gln642_Ser655delinsLeuProAlaLeuTyrGluMetThrValSerCysThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688129" }, { "coordinates": [ { "allele": "T", "end": 2179, "referenceAllele": "C", "start": 2178 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_073136.2:n.2179C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702696" }, { "coordinates": [ { "allele": "T", "end": 2621, "referenceAllele": "C", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146311.2:n.2621C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704341" }, { "coordinates": [ { "allele": "T", "end": 2466, "referenceAllele": "C", "start": 2465 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146313.2:n.2466C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704342" }, { "coordinates": [ { "allele": "T", "end": 2537, "referenceAllele": "C", "start": 2536 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146315.2:n.2537C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704343" }, { "@id": "http://reg.genome.network/allele/PA2829965113", "coordinates": [ { "allele": "T", "end": 2512, "referenceAllele": "C", "start": 2511 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NM_022081.6:c.1924C>T" ], "proteinEffect": { "hgvs": "NP_071364.4:p.Gln642Ter", "hgvsWellDefined": "NP_071364.4:p.Gln642_Leu708delinsLeuProAlaLeuTyrGluMetThrValArgAsnAlaSerThrAlaValTyrAlaCysCysAsnProIleGlnGluThrTyrPheGlnGlnLeuAlaProAlaAlaArgSerSerGlyPheProAsnProGlnAspGlyAlaPheSerLeuSerGlyLysAlaLysGlnLysLeuLeuLysHisGlyValAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728565", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398145.7:c.1924C>T" }, "RefSeq": { "hgvs": "NM_022081.6:c.1924C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381213.2:p.Gln642Ter" }, "RefSeq": { "hgvs": "NP_071364.4:p.Gln642Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2512, "referenceAllele": "C", "start": 2511 } ], "gene": "http://reg.genome.network/gene/GN015844", "geneNCBI_id": 89781, "geneSymbol": "HPS4", "hgvs": [ "NR_146316.2:n.2512C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731249" } ], "type": "nucleotide" }